ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter)

dbSNP: rs1554122244
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234123 SCV001406752 pathogenic Intellectual disability, autosomal dominant 5 2019-11-11 criteria provided, single submitter clinical testing Loss-of-function variants in SYNGAP1 are known to be pathogenic (PMID: 23161826, 23708187, 26989088). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with SYNGAP1-related conditions (PMID: 26079862). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg922*) in the SYNGAP1 gene. It is expected to result in an absent or disrupted protein product.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001234123 SCV001442513 pathogenic Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing 20A4438
GeneDx RCV001579857 SCV001813305 pathogenic not provided 2022-12-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26989088, 29455050, 25533962, 26079862, 28135719, 28191890, 28524815, 31981491, 34924933)
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001234123 SCV001739323 pathogenic Intellectual disability, autosomal dominant 5 2021-02-09 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579857 SCV001808763 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579857 SCV001959545 pathogenic not provided no assertion criteria provided clinical testing
Solve-RD Consortium RCV001234123 SCV005091350 likely pathogenic Intellectual disability, autosomal dominant 5 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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